Canonical Allele Identifier: CA2202928454

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728041C= , CM000678.2:g.3728041C=	GRCh38
NC_000016.9:g.3778042C= , CM000678.1:g.3778042C=	GRCh37
NC_000016.8:g.3718043C=	NCBI36
NG_009873.1:g.157080G=
NG_009873.2:g.157673G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7006G= MANE Select	ENSP00000262367.5:p.Ala2336=
ENST00000262367.9:c.7006G=	ENSP00000262367.5:p.Ala2336=
ENST00000382070.7:c.6892G=	ENSP00000371502.3:p.Ala2298=
NM_001079846.1:c.6892G=	NP_001073315.1:p.Ala2298=
NM_004380.2:c.7006G=	NP_004371.2:p.Ala2336=
XM_005255124.3:c.6961G=	XP_005255181.1:p.Ala2321=
XM_005255125.3:c.6589G=	XP_005255182.1:p.Ala2197=
XM_006720848.2:c.6745G=	XP_006720911.1:p.Ala2249=
XM_011522380.1:c.6952G=	XP_011520682.1:p.Ala2318=
XM_011522381.1:c.6253G=	XP_011520683.1:p.Ala2085=
XM_005255124.4:c.6961G=	XP_005255181.1:p.Ala2321=
XM_005255125.4:c.6589G=	XP_005255182.1:p.Ala2197=
XM_006720848.3:c.6745G=	XP_006720911.1:p.Ala2249=
XM_011522381.2:c.6253G=	XP_011520683.1:p.Ala2085=
XM_017022944.1:c.7000G=	XP_016878433.1:p.Ala2334=
NM_004380.3:c.7006G= MANE Select	NP_004371.2:p.Ala2336=